SEZ6 wt Allele

Preferred Label : SEZ6 wt Allele;

NCIt synonyms : Seizure-Related 6, Mouse, Homolog of Gene; BSRPC; Seizure Related 6 Homolog wt Allele; Seizure Related 6 Homolog (Mouse) Gene;

NCIt definition : Human SEZ6 wild-type allele is located in the vicinity of 17q11.2 and is approximately 52 kb in length. This allele, which encodes seizure protein 6 homolog, plays a role in the regulation of protein kinase C-alpha signaling, neuronal differentiation and postsynaptic excitatory potential. Mutations in the gene may be associated with febrile seizures and Alzheimer disease.;

NCI Metathesaurus CUI : CL1926349;

GenBank Accession Number : AY038048;

Details

Origin ID

C204082;

UMLS CUI

C5891043;

OMIM relation
- Seizure-related 6, mouse, homolog of [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q11.2 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Neural Development [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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